Catalog

Helicoid peripapillary chorioretinal degeneration

No MMS code

Link to WHO Definition

Helicoid peripapillary chorioretinal degeneration – http://id.who.int/icd/entity/896652469

Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterised by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.

Parents